ArticleScientific reports2020
Mutation type classification and pathogenicity assignment of sixteen missense variants located in the EGF-precursor homology domain of the LDLR.
Article in Scientific reports, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 22 papers.
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22 citing papers in PubMed, 40 citations in OpenAlex.
- Genetic Spectrum of Familial Hypercholesterolemia in Russian North-West Registry: Focus on Correlation Between Clinical and Genetic Diagnosis.Journal of cardiovascular development and disease · 2026Article
- Cascade screening and genetic variant pathogenicity assessment for familial hypercholesterolemia in a township‑based elderly population.Lipids in health and disease · 2026Article
- Pathogenicity analysis and functional prediction of a rare LDLR variant in familial hypercholesterolemia combined with Wilson disease.Genes & genomics · 2026Article
- Venturing into host-pathogen interaction in Crimean-Congo hemorrhagic fever to highlight terra incognita.Frontiers in immunology · 2026Review
- Evaluation of the cellular impact of missense variants in low-density lipoprotein receptor-related protein 6 (LRP6) associated with cardiovascular diseases in HeLa and HEK293T cell lines.Frontiers in cell and developmental biology · 2026Article
- Role of Next-Generation Sequencing in Diagnosis of Familial Hypercholesterolemia in Serbia.Diagnostics (Basel, Switzerland) · 2025Article
- Pathways and Molecular Mechanisms Governing LDL Receptor Regulation.Circulation research · 2025Review
- Regulation of lipid storage and inflammation in the liver by CEACAM1.European journal of clinical investigation · 2024Review
- LDLR c.89_92dup: a novel frameshift variation in familial hypercholesterolemia.Lipids in health and disease · 2024Article
- The association between polymorphism of LDL-R gene and ischemic stroke risk in Chinese population: A meta-analysis.Heliyon · 2024Article
- Phenotypic homozygous familial hypercholesterolemia successfully treated with proprotein convertase subtilisin/kexin type 9 inhibitors.Clinical case reports · 2024Article
- iPSC-Derived Endothelial Cells Reveal LDLR Dysfunction and Dysregulated Gene Expression Profiles in Familial Hypercholesterolemia.International journal of molecular sciences · 2024Article
- CRISPR-Cas9-guided amplification-free genomic diagnosis for familial hypercholesterolemia using nanopore sequencing.PloS one · 2024Article
- Cellular and functional evaluation of LDLR missense variants reported in hypercholesterolemic patients demonstrates their hypomorphic impacts on trafficking and LDL internalization.Frontiers in cell and developmental biology · 2024Article
- Novel LDLR Variant in Familial Hypercholesterolemia: NGS-Based Identification, In Silico Characterization, and Pharmacogenetic Insights.Life (Basel, Switzerland) · 2023Article
- Calling and Phasing of Single-Nucleotide and Structural Variants of theInternational journal of molecular sciences · 2023Article
- Genetic Heterogeneity of Familial Hypercholesterolemia: Repercussions for Molecular Diagnosis.International journal of molecular sciences · 2023Review
- Establishing the Mutational Spectrum of Hungarian Patients with Familial Hypercholesterolemia.Genes · 2022Article
- Fast and Easy Nanopore Sequencing Workflow for Rapid Genetic Testing of Familial Hypercholesterolemia.Frontiers in genetics · 2022Article
- MLb-LDLr: A Machine Learning Model for Predicting the Pathogenicity ofJACC. Basic to translational science · 2021Article
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Authors and funding
10 authors at 3 institutions in 1 country.
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Abstract
The primary genetic cause of familial hypercholesterolemia (FH) is related to mutations in the LDLR gene encoding the Low-density Lipoprotein Receptor. LDLR structure is organized in 5 different domains, including an EGF-precursor homology domain that plays a pivotal role in lipoprotein release and receptor recycling. Mutations in this domain constitute 51.7% of the total missense variants described in LDLR. The aim of the present work was to analyse how clinically significant variants in the EGF-precursor homology domain impact LDLR. The activity of sixteen LDLR variants was functionally characterized by determining LDLR expression by Western blot and LDLR expression, LDL binding capacity and uptake, and LDLR recycling activity by flow cytometry in transfected CHO-ldlA7 cells. Of the analysed variants, we found six non-pathogenic LDLR variants and ten pathogenic variants distributed as follow: three class 3 variants; four class 2 variants; and three class 5 variants. These results can be incorporated into clinical management of patients by helping guide the appropriate level of treatment intensity depending on the extent of loss of LDLR activity. This data can also contribute to cascade-screening for pathogenic FH variants.
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